immunodeficiency 11A

Term ID

DOID:0111957

Synonyms

• CARD11 deficiency
• IMD11A
• SCID due to CARD11 deficiency
• severe combined immunodeficiency due to CARD11 deficiency

Definition

A severe combined immunodeficiency characterized by defective intracellular signaling in T and B cells, increased numbers of transitional B cells, hypogammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell function that has_material_basis_in homozygous or compound heterozygous mutation in the CARD11 gene on chromosome 7p22.2. (2)

References

• OMIM:615206
• ORDO:357237
• UMLS_CUI:C3554686

Ontology

Human Disease   ( DOID:0111957 )